| Metadata | |
|---|---|
| ID | DOID:0051051 | 
| Name | congenital disorder of glycosylation type IIw | 
| Definition | A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.  https://pubmed.ncbi.nlm.nih.gov/33964207/  | 
			    
                        
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| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal dominant inheritance  |